Mutagenetix > Incidental Mutation

Incidental Mutation 'R0165:Abca15'

24107

Institutional Source

Beutler Lab

Gene Symbol

Abca15

Ensembl Gene

ENSMUSG00000054746

Gene Name

ATP-binding cassette, sub-family A (ABC1), member 15

Synonyms

4930500I12Rik

MMRRC Submission

038441-MU

Accession Numbers

NCBI RefSeq: NM_177213.3; MGI:2388709

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R0165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120328670-120407687 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 120350903 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076272] [ENSMUST00000121265]

AlphaFold

E9PWH4

Predicted Effect

probably benign
Transcript: ENSMUST00000076272

SMART Domains

Protein: ENSMUSP00000075621
Gene: ENSMUSG00000054746

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	24	464	5.7e-21	PFAM
AAA	550	732	9.14e-11	SMART
Pfam:ABC2_membrane_3	892	1293	7.9e-24	PFAM
AAA	1381	1565	1.16e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121265

SMART Domains

Protein: ENSMUSP00000112821
Gene: ENSMUSG00000054746

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	24	464	2.1e-21	PFAM
AAA	550	732	9.14e-11	SMART
Pfam:ABC2_membrane_3	907	1293	1e-25	PFAM
AAA	1381	1565	1.16e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140459

Coding Region Coverage

1x: 99.4%
3x: 98.5%
10x: 96.2%
20x: 91.4%

Validation Efficiency

96% (81/84)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	A	15: 8,216,382 (GRCm38)	V1413M	probably damaging	Het
2700049A03Rik	T	C	12: 71,167,150 (GRCm38)	I717T	possibly damaging	Het
3632451O06Rik	A	G	14: 49,773,786 (GRCm38)	S155P	probably benign	Het
6430571L13Rik	A	G	9: 107,346,184 (GRCm38)		probably benign	Het
Abca6	A	G	11: 110,219,604 (GRCm38)	V573A	possibly damaging	Het
Adgrl2	A	G	3: 148,852,863 (GRCm38)		probably benign	Het
Agap3	A	G	5: 24,479,745 (GRCm38)	T544A	probably damaging	Het
Ahrr	G	A	13: 74,283,024 (GRCm38)		probably benign	Het
Akr1c20	T	C	13: 4,523,296 (GRCm38)	T7A	probably benign	Het
Ankrd26	A	G	6: 118,540,484 (GRCm38)	S459P	probably benign	Het
Ascc3	T	A	10: 50,842,127 (GRCm38)		probably null	Het
Brd1	T	C	15: 88,729,777 (GRCm38)	N305S	probably damaging	Het
Catip	T	A	1: 74,368,469 (GRCm38)	L320Q	possibly damaging	Het
Cttnbp2	G	A	6: 18,435,410 (GRCm38)	Q150*	probably null	Het
Cyp2d22	T	G	15: 82,373,280 (GRCm38)	N228T	probably benign	Het
Dapk1	T	C	13: 60,761,593 (GRCm38)	V1340A	probably benign	Het
Dcaf4	G	A	12: 83,535,988 (GRCm38)		probably benign	Het
Ddhd1	G	A	14: 45,595,592 (GRCm38)	T849M	probably damaging	Het
Dnah6	A	G	6: 73,021,323 (GRCm38)	S3987P	probably benign	Het
Dst	C	A	1: 34,154,646 (GRCm38)		probably benign	Het
Epha2	T	C	4: 141,321,892 (GRCm38)		probably null	Het
Ern2	T	C	7: 122,179,779 (GRCm38)	T281A	probably benign	Het
Extl1	A	G	4: 134,357,703 (GRCm38)	F652S	probably damaging	Het
Gckr	A	G	5: 31,326,948 (GRCm38)	S541G	possibly damaging	Het
Gdap1l1	A	G	2: 163,451,499 (GRCm38)		probably null	Het
Gm7535	T	C	17: 17,911,175 (GRCm38)		probably benign	Het
Gmps	T	A	3: 63,993,954 (GRCm38)	I398N	probably damaging	Het
Igf2r	A	G	17: 12,698,527 (GRCm38)	V1556A	probably benign	Het
Il3ra	T	A	14: 14,350,967 (GRCm38)	N283K	probably benign	Het
Ist1	A	G	8: 109,675,366 (GRCm38)		probably benign	Het
Lama3	A	T	18: 12,524,810 (GRCm38)	I1934F	probably damaging	Het
Lars	A	T	18: 42,202,697 (GRCm38)	M1118K	possibly damaging	Het
Lpin2	C	T	17: 71,246,519 (GRCm38)	S846L	probably damaging	Het
Lrrc4b	C	A	7: 44,462,315 (GRCm38)	T537K	probably damaging	Het
Ltn1	G	A	16: 87,405,519 (GRCm38)		probably benign	Het
Meiob	A	G	17: 24,835,161 (GRCm38)	T401A	probably benign	Het
Mettl21e	G	A	1: 44,211,123 (GRCm38)	T41M	probably damaging	Het
Miga1	C	T	3: 152,290,843 (GRCm38)	E323K	probably damaging	Het
Ndufs1	A	T	1: 63,159,748 (GRCm38)		probably null	Het
Olfr486	T	C	7: 108,172,675 (GRCm38)	D23G	probably benign	Het
Otog	G	A	7: 46,304,231 (GRCm38)	V2638M	probably damaging	Het
Parp6	T	C	9: 59,632,925 (GRCm38)	Y274H	probably damaging	Het
Prom2	A	T	2: 127,539,514 (GRCm38)		probably benign	Het
Prune2	T	A	19: 17,122,610 (GRCm38)	M1826K	probably benign	Het
Qk	T	A	17: 10,238,963 (GRCm38)	D159V	probably damaging	Het
Rab12	A	T	17: 66,500,317 (GRCm38)	I139N	probably damaging	Het
Rab25	T	A	3: 88,548,055 (GRCm38)	E7D	probably benign	Het
Rala	A	T	13: 17,888,589 (GRCm38)	V139E	probably benign	Het
Ralgapa2	A	G	2: 146,388,487 (GRCm38)		probably benign	Het
Rbl2	T	A	8: 91,074,176 (GRCm38)	Y89N	probably damaging	Het
Rho	A	T	6: 115,932,227 (GRCm38)	I75F	probably damaging	Het
Slc38a4	C	A	15: 97,008,949 (GRCm38)	A303S	probably benign	Het
Slc6a15	A	G	10: 103,409,809 (GRCm38)	D551G	probably null	Het
Smyd3	T	C	1: 179,043,872 (GRCm38)	N314S	probably benign	Het
Speer4f1	T	A	5: 17,479,514 (GRCm38)	L180*	probably null	Het
Stat6	T	C	10: 127,657,227 (GRCm38)	V576A	probably damaging	Het
Strn	T	C	17: 78,677,374 (GRCm38)	D127G	possibly damaging	Het
Syne1	T	C	10: 5,033,096 (GRCm38)	R8610G	probably benign	Het
Tbc1d7	A	C	13: 43,153,202 (GRCm38)		probably null	Het
Tcf3	C	T	10: 80,412,997 (GRCm38)	R548Q	probably damaging	Het
Tlr9	C	A	9: 106,226,087 (GRCm38)	A859D	probably benign	Het
Tmem106c	T	A	15: 97,968,139 (GRCm38)		probably benign	Het
Tmprss11c	A	T	5: 86,231,927 (GRCm38)		probably benign	Het
Tnfsf18	A	G	1: 161,494,731 (GRCm38)	R7G	probably benign	Het
Tnrc6b	T	A	15: 80,858,670 (GRCm38)		probably null	Het
Trpm7	A	T	2: 126,797,513 (GRCm38)	F1684I	probably damaging	Het
Ttbk1	C	A	17: 46,478,938 (GRCm38)	R133L	possibly damaging	Het
Ttn	A	G	2: 76,721,342 (GRCm38)	S22962P	probably damaging	Het
Ube2q1	T	A	3: 89,776,153 (GRCm38)	L135Q	probably damaging	Het
Vmn1r28	G	A	6: 58,265,717 (GRCm38)	A182T	probably benign	Het
Vwce	T	C	19: 10,659,973 (GRCm38)		probably benign	Het
Wdhd1	A	G	14: 47,267,068 (GRCm38)	S350P	probably benign	Het
Zbtb21	A	G	16: 97,951,404 (GRCm38)	S560P	probably damaging	Het

Other mutations in Abca15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Abca15	APN	7	120,397,054 (GRCm38)	missense	probably damaging	1.00
IGL00505:Abca15	APN	7	120,369,236 (GRCm38)	critical splice donor site	probably null
IGL00851:Abca15	APN	7	120,340,007 (GRCm38)	missense	probably damaging	1.00
IGL00985:Abca15	APN	7	120,397,018 (GRCm38)	missense	probably damaging	1.00
IGL01114:Abca15	APN	7	120,361,420 (GRCm38)	missense	probably damaging	0.99
IGL01287:Abca15	APN	7	120,332,858 (GRCm38)	utr 3 prime	probably benign
IGL01333:Abca15	APN	7	120,382,308 (GRCm38)	missense	probably damaging	1.00
IGL01482:Abca15	APN	7	120,382,746 (GRCm38)	missense	probably benign	0.00
IGL01610:Abca15	APN	7	120,340,644 (GRCm38)	missense	probably damaging	0.98
IGL02238:Abca15	APN	7	120,396,606 (GRCm38)	missense	probably benign	0.02
IGL02377:Abca15	APN	7	120,365,910 (GRCm38)	splice site	probably benign
IGL02666:Abca15	APN	7	120,335,208 (GRCm38)	missense	probably damaging	1.00
IGL02836:Abca15	APN	7	120,388,216 (GRCm38)	missense	probably benign
IGL03337:Abca15	APN	7	120,396,707 (GRCm38)	missense	probably benign	0.24
IGL03354:Abca15	APN	7	120,394,488 (GRCm38)	nonsense	probably null
H8562:Abca15	UTSW	7	120,374,854 (GRCm38)	splice site	probably benign
IGL03098:Abca15	UTSW	7	120,388,276 (GRCm38)	splice site	probably null
R0029:Abca15	UTSW	7	120,346,002 (GRCm38)	missense	probably benign	0.01
R0029:Abca15	UTSW	7	120,346,002 (GRCm38)	missense	probably benign	0.01
R0076:Abca15	UTSW	7	120,373,685 (GRCm38)	splice site	probably benign
R0311:Abca15	UTSW	7	120,402,904 (GRCm38)	missense	probably damaging	0.98
R0387:Abca15	UTSW	7	120,332,852 (GRCm38)	critical splice donor site	probably null
R0610:Abca15	UTSW	7	120,365,786 (GRCm38)	missense	possibly damaging	0.75
R0612:Abca15	UTSW	7	120,337,255 (GRCm38)	missense	probably damaging	1.00
R0704:Abca15	UTSW	7	120,354,523 (GRCm38)	missense	probably damaging	0.98
R0890:Abca15	UTSW	7	120,373,713 (GRCm38)	missense	probably benign	0.01
R0961:Abca15	UTSW	7	120,360,985 (GRCm38)	nonsense	probably null
R1144:Abca15	UTSW	7	120,360,860 (GRCm38)	splice site	probably benign
R1412:Abca15	UTSW	7	120,345,323 (GRCm38)	missense	possibly damaging	0.93
R1419:Abca15	UTSW	7	120,374,902 (GRCm38)	missense	probably benign	0.10
R1467:Abca15	UTSW	7	120,340,538 (GRCm38)	splice site	probably null
R1467:Abca15	UTSW	7	120,340,538 (GRCm38)	splice site	probably null
R1469:Abca15	UTSW	7	120,382,497 (GRCm38)	missense	probably benign	0.00
R1469:Abca15	UTSW	7	120,382,497 (GRCm38)	missense	probably benign	0.00
R1493:Abca15	UTSW	7	120,382,290 (GRCm38)	missense	probably benign	0.00
R1513:Abca15	UTSW	7	120,340,099 (GRCm38)	missense	probably damaging	0.96
R1702:Abca15	UTSW	7	120,382,702 (GRCm38)	missense	probably benign	0.10
R1857:Abca15	UTSW	7	120,361,369 (GRCm38)	missense	probably damaging	1.00
R1893:Abca15	UTSW	7	120,340,553 (GRCm38)	missense	possibly damaging	0.85
R1901:Abca15	UTSW	7	120,346,099 (GRCm38)	missense	probably damaging	1.00
R1951:Abca15	UTSW	7	120,361,432 (GRCm38)	missense	probably damaging	1.00
R1953:Abca15	UTSW	7	120,361,432 (GRCm38)	missense	probably damaging	1.00
R1962:Abca15	UTSW	7	120,341,245 (GRCm38)	missense	probably damaging	1.00
R2063:Abca15	UTSW	7	120,360,904 (GRCm38)	missense	possibly damaging	0.61
R2141:Abca15	UTSW	7	120,407,474 (GRCm38)	missense	probably damaging	1.00
R2145:Abca15	UTSW	7	120,354,478 (GRCm38)	missense	probably benign	0.08
R2182:Abca15	UTSW	7	120,340,227 (GRCm38)	nonsense	probably null
R2425:Abca15	UTSW	7	120,359,810 (GRCm38)	missense	probably damaging	1.00
R2444:Abca15	UTSW	7	120,365,897 (GRCm38)	missense	probably damaging	1.00
R3023:Abca15	UTSW	7	120,382,779 (GRCm38)	missense	probably benign	0.40
R3079:Abca15	UTSW	7	120,385,169 (GRCm38)	missense	probably damaging	1.00
R3106:Abca15	UTSW	7	120,396,633 (GRCm38)	missense	possibly damaging	0.63
R3622:Abca15	UTSW	7	120,350,813 (GRCm38)	nonsense	probably null
R4085:Abca15	UTSW	7	120,382,726 (GRCm38)	missense	probably damaging	1.00
R4233:Abca15	UTSW	7	120,402,979 (GRCm38)	nonsense	probably null
R4591:Abca15	UTSW	7	120,382,413 (GRCm38)	missense	probably damaging	1.00
R4612:Abca15	UTSW	7	120,335,161 (GRCm38)	missense	probably benign	0.03
R4721:Abca15	UTSW	7	120,350,775 (GRCm38)	missense	probably benign	0.01
R4838:Abca15	UTSW	7	120,345,300 (GRCm38)	missense	probably benign	0.00
R4940:Abca15	UTSW	7	120,332,694 (GRCm38)	missense	probably benign
R4963:Abca15	UTSW	7	120,360,919 (GRCm38)	missense	probably damaging	1.00
R4993:Abca15	UTSW	7	120,401,718 (GRCm38)	missense	probably damaging	0.99
R5022:Abca15	UTSW	7	120,346,096 (GRCm38)	missense	probably damaging	0.98
R5030:Abca15	UTSW	7	120,340,001 (GRCm38)	missense	probably damaging	1.00
R5072:Abca15	UTSW	7	120,406,975 (GRCm38)	missense	probably damaging	1.00
R5090:Abca15	UTSW	7	120,385,199 (GRCm38)	missense	probably damaging	1.00
R5309:Abca15	UTSW	7	120,345,369 (GRCm38)	missense	probably damaging	0.96
R5310:Abca15	UTSW	7	120,332,616 (GRCm38)	missense	possibly damaging	0.46
R5312:Abca15	UTSW	7	120,345,369 (GRCm38)	missense	probably damaging	0.96
R5482:Abca15	UTSW	7	120,369,147 (GRCm38)	missense	probably damaging	1.00
R5596:Abca15	UTSW	7	120,401,749 (GRCm38)	missense	possibly damaging	0.94
R5853:Abca15	UTSW	7	120,340,583 (GRCm38)	missense	probably benign	0.00
R5950:Abca15	UTSW	7	120,382,656 (GRCm38)	missense	probably damaging	1.00
R5953:Abca15	UTSW	7	120,361,018 (GRCm38)	missense	probably damaging	1.00
R6072:Abca15	UTSW	7	120,388,258 (GRCm38)	missense	probably damaging	0.98
R6131:Abca15	UTSW	7	120,340,205 (GRCm38)	missense	probably benign	0.03
R6132:Abca15	UTSW	7	120,361,420 (GRCm38)	missense	probably benign	0.14
R6136:Abca15	UTSW	7	120,340,049 (GRCm38)	missense	possibly damaging	0.81
R6207:Abca15	UTSW	7	120,373,794 (GRCm38)	missense	probably benign	0.01
R6315:Abca15	UTSW	7	120,346,092 (GRCm38)	missense	probably damaging	1.00
R6417:Abca15	UTSW	7	120,397,128 (GRCm38)	missense	possibly damaging	0.95
R6420:Abca15	UTSW	7	120,397,128 (GRCm38)	missense	possibly damaging	0.95
R6595:Abca15	UTSW	7	120,394,487 (GRCm38)	missense	probably benign	0.00
R6653:Abca15	UTSW	7	120,346,006 (GRCm38)	missense	probably benign	0.03
R6859:Abca15	UTSW	7	120,402,994 (GRCm38)	nonsense	probably null
R6983:Abca15	UTSW	7	120,354,463 (GRCm38)	missense	probably benign	0.26
R7127:Abca15	UTSW	7	120,332,602 (GRCm38)	missense	probably benign	0.06
R7205:Abca15	UTSW	7	120,394,364 (GRCm38)	missense	possibly damaging	0.89
R7336:Abca15	UTSW	7	120,388,233 (GRCm38)	missense	possibly damaging	0.66
R7426:Abca15	UTSW	7	120,345,998 (GRCm38)	missense	possibly damaging	0.88
R7745:Abca15	UTSW	7	120,332,217 (GRCm38)	missense	probably damaging	1.00
R7751:Abca15	UTSW	7	120,365,821 (GRCm38)	missense	possibly damaging	0.72
R7806:Abca15	UTSW	7	120,332,836 (GRCm38)	missense	probably damaging	0.96
R8042:Abca15	UTSW	7	120,403,010 (GRCm38)	missense	possibly damaging	0.95
R8098:Abca15	UTSW	7	120,361,396 (GRCm38)	missense	probably benign	0.09
R8153:Abca15	UTSW	7	120,400,589 (GRCm38)	missense	probably damaging	1.00
R8247:Abca15	UTSW	7	120,337,222 (GRCm38)	missense	possibly damaging	0.83
R8259:Abca15	UTSW	7	120,340,199 (GRCm38)	missense	probably benign	0.00
R8272:Abca15	UTSW	7	120,407,442 (GRCm38)	missense	probably damaging	1.00
R8295:Abca15	UTSW	7	120,374,965 (GRCm38)	missense	probably benign	0.00
R8757:Abca15	UTSW	7	120,407,408 (GRCm38)	missense	probably damaging	0.96
R8759:Abca15	UTSW	7	120,407,408 (GRCm38)	missense	probably damaging	0.96
R8905:Abca15	UTSW	7	120,361,548 (GRCm38)	missense	probably benign	0.28
R9145:Abca15	UTSW	7	120,388,165 (GRCm38)	missense	probably benign	0.13
R9217:Abca15	UTSW	7	120,388,216 (GRCm38)	missense	probably benign
R9264:Abca15	UTSW	7	120,401,833 (GRCm38)	missense	probably benign	0.14
R9517:Abca15	UTSW	7	120,388,201 (GRCm38)	missense	probably benign	0.07
RF018:Abca15	UTSW	7	120,394,460 (GRCm38)	missense	possibly damaging	0.50
Z1176:Abca15	UTSW	7	120,382,505 (GRCm38)	missense	probably damaging	0.99
Z1176:Abca15	UTSW	7	120,346,026 (GRCm38)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- AGCACTCTTACTGGTTTGGAGAACCAC -3'
(R):5'- GAGATGAATCACCTGAGCTGCATACTG -3'

Sequencing Primer
(F):5'- TGGTTTGGAGAACCACCTCAAC -3'
(R):5'- CTGAGCTGCATACTGATATCCAG -3'

Protein Function and Prediction

Abca15 encodes ABCA15, a member of the ATP-binding cassette (ABC) transporter superfamily. The members of the ABCA subfamily share a high degree of sequence conservation and function in lipid trafficking in several body locations. Abca15 has been cloned rat and mouse; no human orthologue has been described. The ABCA15 has two nucleotide-binding folds and two transmembrane domains. Abca15 is predominantly expressed in testis, indicating that it may function in testicular development or spermatogenesis.

Posted On

2013-04-16